Hemophilia is the most common inherited bleeding disorder. It involves a deficiency of one of two blood-clotting substances, known as factor VIII and factor IX, and leads to the inability of the blood to clot. There are two types of hemophiliac—type A and type B—but the symptoms are the same in both types. There are about 20,000 people in the United States who have hemophilia.
Signs and SymptomsHemophilia may be accompanied by the following signs and symptoms:
- Joint pain and swelling, frequently in the knees and elbows
- Heavy bleeding, or bleeding that lasts a long time, from an accident or other injury; the start of bleeding may be delayed
- Large bruises
- Swelling under the skin and between muscles, with fever, skin discoloration, and pain
- Internal bleeding in the abdominal region, airway, or central nervous system
- Bleeding of the mouth and gums; tooth loss
- Blood in the urine
- Digestive problems
What Causes It?Hemophilia is an inherited disorder that almost exclusively affects men. Women are rarely affected but are the carriers who can pass the condition to their male children.
Who's Most At Risk?Hemophilia affects people from all ethnic groups. The daughters of men with hemophilia are carriers. However, even if hemophilia runs in the family, only about half the sons of carriers will have hemophilia.
What to Expect at Your Provider's OfficeYour healthcare provider will take a family history and do a physical examination, checking for deep bleeding, muscle spasms, limited joint motion, joints that are warm and enlarged, and bruises. Blood tests including tests of the blood's clotting abilities, computed tomography (CT) scans, and magnetic resonance imaging (MRI) for bleeding in the joints may be used.
PreventionHemophilia cannot be prevented, but it is possible to test to determine whether an unborn baby will have the disorder. If a person has hemophilia, the following cautionary measures should be taken:
- Avoid taking aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs).
- Vaccinate all patients, including infants, with the hepatitis B vaccine.
- Self-administer factor VIII or IX to help delay arthritis and prevent joint disease.
- Avoid circumcising male infants of women known to be carriers of hemophilia until the disorder in the infant has been ruled out.
- Carry information at all times identifying the person as someone with hemophilia.
Treatment PlanThe primary treatment for hemophilia is factor replacement therapy, which involves replacing the blood's deficient clotting factor. This factor is produced from normal human or animal blood products or is genetically engineered. A healthcare provider may also prescribe pain relievers. Physical therapy may improve joint healing and function. Surgery may be performed for complications arising from hemophilia.
Drug TherapiesA healthcare provider may prescribe the following medications:
- Factor VIII or IX replacement therapy
- Pain relievers other than aspirin or NSAIDs, as they decrease the ability of the blood to clot
- Topical medications to control bleeding
- The drug desmopressin (DDAVP) may be used in people with mild hemophilia as an alternative to clotting factors.
Surgical and Other ProceduresCertain types of surgery may become necessary, including the following:
- Synovectomy: removal or shrinking of the sac around a joint
- Osteotomy: surgical cutting of a bone
- Arthroplasty: surgical remodeling of a diseased joint
- Removal of an uncontrollable, expanding hematoma (partially clotted blood under the skin that resembles a bruise)
- Amputation of infected or useless extremities
Complementary and Alternative TherapiesConventional exams, tests, treatment, and follow-up for hemophilia are very important. Never delay conventional care when you have bleeding or have joint pain or swelling. However, there are a few CAM therapies that may be helpful in conjunction with conventional care for certain symptoms and after effects of hemophilia. The degree of spontaneous bleeding has been linked to emotional and psychological stress. Some mind/body therapies may help relieve stress and anxiety. Studies even suggest that hypnosis may reduce the need for blood transfusions.
No studies have examined the link between nutrition and hemophilia. However, it would be wise to avoid vitamin E and fish oil if you have hemophilia, as they seem to increase bleeding time by keeping platelets from clumping. Vitamin K plays a role in normal clotting and may be useful either from dietary sources or in supplement form, but research is needed in this area.
No studies have examined the value of herbs for hemophilia specifically. However, based on their own experience, herbalists may recommend herbs that strengthen blood vessels and act as astringents (causing contraction) to make bleeding less severe, such as the following:
- Bilberry fruit (Vaccinium myrtillus)
- Grape seed extract (Vitis vinifera)
- Hawthorn berry (Crategus monogyna)
- Horse chestnut (Aesculus hippocastanum)
- Witch hazel (Hamamelis virginiana)
- Yarrow (Achillea millefolium)
There have been few studies examining the effectiveness of specific homeopathic remedies. However, a review of several case reports found that the following remedies were helpful for individuals with hemophilia and even reduced their need for blood-clotting substances like factor VIII. Before prescribing a remedy, homeopaths take into account a person's constitutional type. In homeopathic terms, a person's constitution is his or her physical, emotional, and intellectual makeup. An experienced homeopath assesses all of these factors as well as any current symptoms when determining the most appropriate remedy for a particular person.
- Arnica — for internal or external bleeding immediately following an injury; helpful for shock or trauma
- Carbo vegetabilis — for people with pale skin and weakness who are extremely frail, even listless, but like cold and fresh air
- Crotalus horridus — used when there is bleeding into the muscles and when blood appears thin and dark; this remedy is most appropriate for individuals who are tall, thin, and pale, have diarrhea and an aversion to warm food and drink; may have fears of being alone and death
- Hamamelis — for bleeding from a cut or wound, especially useful in nosebleeds, hemorrhoids, and broken blood vessels in the eye
- Lachesis — for heavy bleeding that is dark in color, especially in red-headed individuals that are jealous and depressed
- Millefolium — for internal or external wounds with significant bleeding and poor clotting
- Phosphorus — for frequent, heavy bleeding; this remedy is most appropriate for individuals who experience cold sweats and have a desire for alcoholic beverages; the individual may also feel as though clothing aggravates the throat
- Secale — for bleeding that is worsened by heat and lessened by cold
According to a report of two cases in Australia, acupuncture may help relieve joint problems caused by hemophilia. It may also relieve pain when other treatments have failed and may be a useful substitute for medicines that can cause bleeding.
However, guidelines and precautions should be observed in using acupuncture for hemophilia. Bleeding into certain areas of the body is a danger in acupuncture and can be fatal for someone with hemophilia; acupuncture should be used only as a last resort. If you choose to try acupuncture, work with a trained, licensed acupuncturist who has experience dealing with hemophilia.
Physical therapy may play an important role in reducing joint problems caused by repeated bleeding in those areas. The following modalities may be recommended by the physical therapist:
- Movement exercises
- Resistance training (such as weight lifting and other exercises that put tension on muscles)
- Nerve stimulation
- Hydrotherapy (water therapy)
Prognosis/Possible ComplicationsSince 1983, improved replacement therapy techniques have reduced the risk of contracting infections such as AIDS or hepatitis from the blood supply, and this has lengthened lives. The life expectancy for people with hemophilia who do not have AIDS is 68 years. In people who do not receive factor replacement therapy, complications include the destruction of bones and joints, life-threatening cysts, bleeding in the brain, airway obstruction, gangrene, bleeding into muscles causing damage to nerves, chronic bruising, and anemia. Sudden bleeding can occur with emotional stress.
Following UpYour healthcare provider will want to see you every 6 to 12 months. Your provider may also suggest centers where you can receive a range of treatments and learn more about how to manage your condition.
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